Canonical Allele Identifier: CA383032266
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs1488344979
gnomAD v3: 11-121162320-G-T
gnomAD v4: 11-121162320-G-T
MyVariant Identifiers: chr11:g.121033029G>T (hg19) chr11:g.121162320G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162320G>T , CM000673.2:g.121162320G>T GRCh38
NC_000011.9:g.121033029G>T , CM000673.1:g.121033029G>T GRCh37
NC_000011.8:g.120538239G>T NCBI36
NG_011633.1:g.64655G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5222G>T (TECTA) MANE Select ENSP00000376543.1:p.Cys1741Phe
ENST00000642222.1:c.5207G>T (TECTA) ENSP00000493855.1:p.Cys1736Phe
ENST00000645008.1:c.2514G>T (TECTA)
ENST00000646278.1:n.1143G>T (TECTA)
ENST00000264037.2:c.5222G>T (TECTA) ENSP00000264037.2:p.Cys1741Phe
ENST00000392793.5:c.5222G>T (TECTA) ENSP00000376543.1:p.Cys1741Phe
NM_005422.2:c.5222G>T (TECTA) NP_005413.2:p.Cys1741Phe
NM_001378761.1:c.6164G>T (TBCEL-TECTA) NP_001365690.1:p.Cys2055Phe
NM_005422.4:c.5222G>T (TECTA) MANE Select NP_005413.2:p.Cys1741Phe
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